3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine biosynthesis

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From Burden to Empowerment. Patient-Reported Influencing Factors on Participation in Shared Decision Making in Oncology, a Meta-Study.

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Patient education and counseling·2024

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals.

Orphanet journal of rare diseases·2022

Assessing the effects of PMM2 variants on protein stability.

Molecular genetics and metabolism·2021

The challenge of CDG diagnosis.

Molecular genetics and metabolism·2018

L-Carnitine Prevents Lipopolysaccharide-Induced Inflammatory Response, Microglia Activation and Neuronal Damage in Cerebral Cortex, as Well as Neuromotor Development Delay in Neonatal Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice.

Journal of inherited metabolic disease·2026

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.

Journal of inherited metabolic disease·2026

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.

Journal of inherited metabolic disease·2026

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.

Journal of inherited metabolic disease·2026

Genome Editing for Glycogen Storage Diseases.

Journal of inherited metabolic disease·2026

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.

Journal of inherited metabolic disease·2026

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Annals of Indian Academy of Neurology·2026

Comparing diagnostic prostate cancer biomarkers using a framework of clinically meaningful criteria.

BJUI compass·2026

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The journal of allergy and clinical immunology. Global·2026

Perioperative Aspirin Continuation Is Not Associated With Increased Surgical Morbidity Following Minimally Invasive Anterior-to-Psoas Lumbar Fusion: A Propensity-Matched Analysis.

Spine·2026

Task-Based fMRI Reveals a Diagnosis-Dependent Amygdala Lateralization in Major Depressive Disorder, Borderline Personality Disorder, and Comorbidities.

Neuroscience bulletin·2026

High Prevalence of Fatigue is Linked to Depression in Inflammatory Bowel Disease.

Gastroenterology nursing : the official journal of the Society of Gastroenterology Nurses and Associates·2026

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3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine

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CDG due to Defective Membrane Transporters: Update.

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3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine...

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3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine